A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4763514



Internal ID20539374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46120125..46120125hg38UCSC Ensembl
chr21:47540039..47540039hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16293537
Samples
Known GenesCOL6A2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4763514
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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